A curated catalogue of human genomic structural variation




Variant Details

Variant: esv11125



Internal ID11375044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:181402697..181462881hg38UCSC Ensembl
Innerchr5:180829698..180889882hg19UCSC Ensembl
Innerchr5:180762304..180822488hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3860185
hg1960185
hg1860185
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv28275
Supporting Variantsessv61402, essv69000, essv37309, essv51911, essv76045, essv79603, essv82066, essv39353, essv79934, essv57261, essv55881, essv58372, essv66952
SamplesNA11995, NA12414, NA12287, NA12828, NA11993, NA19114, NA11894, NA12239, NA18858, NA19108, NA12749, NA12006, NA12776
Known Genes
MethodOligo aCGH
AnalysisSegment log2 ratios from each sample. This was done running the GADA algorithm (Pique-Regi et al., 2008) using the options "-M 10 -T 10 -a 2.5". Filter non-CNV segments using intensity thresholds. Merge remaining CNV "calls" within each sample. Adjacent calls of the same direction (gain or loss) are merged if both: the distance between calls is less than 10kb, and the distance between calls is less than 10% of the size of the largest of the two calls.
PlatformSanger H. Sapiens 42mCGH Array 5781_53 726K v1
Comments
ReferenceConrad_et_al_2009
Pubmed ID19812545
Accession Number(s)esv11125
Frequency
Sample Size40
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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